V65I (p.Val65Ile) variant of CYP2B6 (Cytochrome P450 2B6)
V65I (p.Val65Ile) in CYP2B6 (Cytochrome P450 2B6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of CYP2B6-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- 1000Genomes rs555774283
- ExAC rs555774283
- TOPMed rs555774283
- gnomAD rs555774283
- Uncertain significance
- CYP2B6-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.35
- MetaLR 0.34
- MetaSVM -0.66
- CADD 23.90
- PolyPhen-2 0.76
- SIFT 0.07
- ClinVar: Uncertain significance (CYP2B6-related disorder)
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available